Literature associating CNTN1 and multiple pterygium syndrome
Neural cell surface protein F3; Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity); Belongs to the immunoglobulin superfamily. Contactin family.
Synonyms: CNTN1, CNTN1p, hCNTN1, A0A024R104, CNTN1-001 ...